Canonical Allele Identifier: CA375311426

Gene: POMT1

Linked Data

• gnomAD v4: 9-131518511-C-T
• MyVariant Identifiers: chr9:g.134393898C>T (hg19) ; chr9:g.131518511C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131518511C>T , CM000671.2:g.131518511C>T	GRCh38
NC_000009.11:g.134393898C>T , CM000671.1:g.134393898C>T	GRCh37
NC_000009.10:g.133383719C>T	NCBI36
NG_008896.1:g.20610C>T
NG_008896.2:g.20610C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000341012.13:c.1177C>T	ENSP00000343034.7:p.His393Tyr
ENST00000404875.7:n.1879C>T
ENST00000423007.6:c.1396C>T	ENSP00000404119.2:p.His466Tyr
ENST00000677295.2:c.*1683C>T	ENSP00000504346.2:n.*1683C>T
ENST00000678264.2:c.*1522C>T	ENSP00000503157.2:n.*1522C>T
ENST00000682070.1:n.1804C>T
ENST00000682535.1:n.111C>T
ENST00000682539.1:c.277C>T
ENST00000682813.1:n.1604C>T
ENST00000683110.1:n.67C>T
ENST00000683392.1:n.4086C>T
ENST00000683712.1:n.1744C>T
ENST00000683900.1:n.3239C>T
ENST00000684062.1:n.2005C>T
ENST00000684579.1:n.3185C>T
ENST00000684679.1:n.566C>T
ENST00000341012.12:c.1177C>T	ENSP00000343034.7:p.His393Tyr
ENST00000372220.5:c.208C>T	ENSP00000361294.5:p.His70Tyr
ENST00000372228.9:c.1405C>T	ENSP00000361302.3:p.His469Tyr
ENST00000402686.8:c.1339C>T MANE Select	ENSP00000385797.4:p.His447Tyr
ENST00000676640.1:c.1339C>T	ENSP00000503281.1:p.His447Tyr
ENST00000676803.1:c.514C>T	ENSP00000503093.1:p.His172Tyr
ENST00000676835.1:c.*554C>T	ENSP00000502911.1:n.*554C>T
ENST00000677029.1:c.883C>T	ENSP00000502936.1:p.His295Tyr
ENST00000677099.1:c.*1049C>T	ENSP00000504553.1:n.*1049C>T
ENST00000677216.1:c.988C>T	ENSP00000503772.1:p.His330Tyr
ENST00000677221.1:n.364C>T
ENST00000677295.1:c.*716C>T	ENSP00000504346.1:n.*716C>T
ENST00000677444.1:c.1145C>T
ENST00000677586.1:n.820C>T
ENST00000677626.1:c.988C>T	ENSP00000503552.1:p.His330Tyr
ENST00000677677.1:n.1299C>T
ENST00000677853.1:c.*347C>T	ENSP00000503488.1:n.*347C>T
ENST00000677983.1:n.428C>T
ENST00000678202.1:n.359C>T
ENST00000678264.1:c.*716C>T	ENSP00000503157.1:n.*716C>T
ENST00000678303.1:c.1249C>T	ENSP00000503696.1:p.His417Tyr
ENST00000678366.1:c.*1588C>T	ENSP00000504353.1:n.*1588C>T
ENST00000678546.1:c.*1284C>T	ENSP00000503062.1:n.*1284C>T
ENST00000678548.1:c.*1411C>T	ENSP00000503934.1:n.*1411C>T
ENST00000678626.1:n.1036C>T
ENST00000678733.1:c.420C>T
ENST00000678739.1:c.*1665C>T	ENSP00000503806.1:n.*1665C>T
ENST00000678795.1:n.426C>T
ENST00000678833.1:c.*786C>T	ENSP00000503893.1:n.*786C>T
ENST00000678942.1:c.519C>T	ENSP00000504690.1:n.519C>T
ENST00000679023.1:c.1177C>T	ENSP00000503718.1:p.His393Tyr
ENST00000679076.1:c.958C>T
ENST00000679111.1:c.1339C>T	ENSP00000504257.1:p.His447Tyr
ENST00000679189.1:c.988C>T	ENSP00000503356.1:p.His330Tyr
ENST00000341012.11:c.1177C>T	ENSP00000343034.7:p.His393Tyr
ENST00000372220.4:c.202C>T	ENSP00000361294.4:p.His68Tyr
ENST00000372228.7:c.1405C>T	ENSP00000361302.3:p.His469Tyr
ENST00000402686.7:c.1339C>T	ENSP00000385797.3:p.His447Tyr
ENST00000404875.6:c.988C>T	ENSP00000384531.2:p.His330Tyr
ENST00000423007.5:c.1339C>T	ENSP00000404119.1:p.His447Tyr
ENST00000485278.5:n.1894C>T
NM_001077365.1:c.1339C>T	NP_001070833.1:p.His447Tyr
NM_001077366.1:c.1177C>T	NP_001070834.1:p.His393Tyr
NM_001136113.1:c.1339C>T	NP_001129585.1:p.His447Tyr
NM_001136114.1:c.988C>T	NP_001129586.1:p.His330Tyr
NM_007171.3:c.1405C>T	NP_009102.3:p.His469Tyr
XM_005272156.1:c.1405C>T	XP_005272213.1:p.His469Tyr
XM_005272158.1:c.1243C>T	XP_005272215.1:p.His415Tyr
XM_005272159.1:c.1054C>T	XP_005272216.1:p.His352Tyr
XM_005272162.1:c.208C>T	XP_005272219.1:p.His70Tyr
XM_006716932.1:c.1054C>T	XP_006716995.1:p.His352Tyr
XM_011518140.1:c.1258C>T	XP_011516442.1:p.His420Tyr
XM_011518141.1:c.1192C>T	XP_011516443.1:p.His398Tyr
XM_011518142.1:c.1096C>T	XP_011516444.1:p.His366Tyr
XM_011518143.1:c.1090C>T	XP_011516445.1:p.His364Tyr
XM_011518144.1:c.1405C>T	XP_011516446.1:p.His469Tyr
XM_011518145.1:c.949C>T	XP_011516447.1:p.His317Tyr
XM_011518146.1:c.1090C>T	XP_011516448.1:p.His364Tyr
XM_011518147.1:c.277C>T	XP_011516449.1:p.His93Tyr
XR_929703.1:n.1581C>T
NM_001353193.1:c.1405C>T	NP_001340122.1:p.His469Tyr
NM_001353194.1:c.1177C>T	NP_001340123.1:p.His393Tyr
NM_001353195.1:c.988C>T	NP_001340124.1:p.His330Tyr
NM_001353196.1:c.1249C>T	NP_001340125.1:p.His417Tyr
NM_001353197.1:c.1243C>T	NP_001340126.1:p.His415Tyr
NM_001353198.1:c.1243C>T	NP_001340127.1:p.His415Tyr
NM_001353199.1:c.1054C>T	NP_001340128.1:p.His352Tyr
NM_001353200.1:c.883C>T	NP_001340129.1:p.His295Tyr
NR_148391.1:n.1389C>T
NR_148392.1:n.1607C>T
NR_148393.1:n.1389C>T
NR_148394.1:n.1282C>T
NR_148395.1:n.1541C>T
NR_148396.1:n.1175C>T
NR_148397.1:n.1439C>T
NR_148398.1:n.1394C>T
NR_148399.1:n.1781C>T
NR_148400.1:n.1380C>T
XM_005272162.3:c.208C>T	XP_005272219.1:p.His70Tyr
XM_006716932.2:c.1054C>T	XP_006716995.1:p.His352Tyr
XM_011518140.2:c.1258C>T	XP_011516442.1:p.His420Tyr
XM_011518141.2:c.1192C>T	XP_011516443.1:p.His398Tyr
XM_011518142.2:c.1096C>T	XP_011516444.1:p.His366Tyr
XM_011518143.2:c.1090C>T	XP_011516445.1:p.His364Tyr
XM_011518145.2:c.949C>T	XP_011516447.1:p.His317Tyr
XM_017014205.2:c.208C>T	XP_016869694.1:p.His70Tyr
XM_024447380.1:c.208C>T	XP_024303148.1:p.His70Tyr
XM_024447381.1:c.514C>T	XP_024303149.1:p.His172Tyr
XM_024447382.1:c.208C>T	XP_024303150.1:p.His70Tyr
XR_001746160.2:n.1509C>T
XR_001746162.2:n.1575C>T
XR_001746164.1:n.1292C>T
XR_001746166.2:n.1726C>T
NM_001077365.2:c.1339C>T MANE Select	NP_001070833.1:p.His447Tyr
NM_001077366.2:c.1177C>T	NP_001070834.1:p.His393Tyr
NM_001136113.2:c.1339C>T	NP_001129585.1:p.His447Tyr
NM_001136114.2:c.988C>T	NP_001129586.1:p.His330Tyr
NM_001353193.2:c.1405C>T	NP_001340122.2:p.His469Tyr
NM_001353194.2:c.1177C>T	NP_001340123.1:p.His393Tyr
NM_001353195.2:c.988C>T	NP_001340124.1:p.His330Tyr
NM_001353196.2:c.1249C>T	NP_001340125.1:p.His417Tyr
NM_001353197.2:c.1243C>T	NP_001340126.2:p.His415Tyr
NM_001353198.2:c.1243C>T	NP_001340127.2:p.His415Tyr
NM_001353199.2:c.1054C>T	NP_001340128.2:p.His352Tyr
NM_001353200.2:c.883C>T	NP_001340129.1:p.His295Tyr
NM_001374689.1:c.1327C>T	NP_001361618.1:p.His443Tyr
NM_001374690.1:c.1339C>T	NP_001361619.1:p.His447Tyr
NM_001374691.1:c.988C>T	NP_001361620.1:p.His330Tyr
NM_001374692.1:c.988C>T	NP_001361621.1:p.His330Tyr
NM_001374693.1:c.988C>T	NP_001361622.1:p.His330Tyr
NM_001374695.1:c.949C>T	NP_001361624.1:p.His317Tyr
NM_007171.4:c.1405C>T	NP_009102.4:p.His469Tyr
NR_148391.2:n.1373C>T
NR_148392.2:n.1591C>T
NR_148393.2:n.1373C>T
NR_148394.2:n.1266C>T
NR_148395.2:n.1525C>T
NR_148396.2:n.1159C>T
NR_148397.2:n.1423C>T
NR_148398.2:n.1378C>T
NR_148399.2:n.1765C>T
NR_148400.2:n.1364C>T